Canonical Allele Identifier: CA539386726

Gene: ALS2

Linked Data

• dbSNP Id: rs1412837734
• gnomAD v2: 2-202611277-ATTCC-A
• gnomAD v3: 2-201746554-ATTCC-A
• gnomAD v4: 2-201746554-ATTCC-A
• MyVariant Identifiers: chr2:g.202611278_202611281del (hg19) ; chr2:g.201746555_201746558del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201746556_201746559del , CM000664.2:g.201746556_201746559del	GRCh38
NC_000002.11:g.202611279_202611282del , CM000664.1:g.202611279_202611282del	GRCh37
NC_000002.10:g.202319524_202319527del	NCBI36
NG_008775.1:g.39615_39618del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.1998+8_1998+11del MANE Select	ENSP00000264276.6:n.1998+8_1998+11del
ENST00000482789.6:n.2340+8_2340+11del
ENST00000482891.6:n.2340+8_2340+11del
ENST00000679416.1:n.2340+8_2340+11del
ENST00000679435.1:c.1998+8_1998+11del	ENSP00000505218.1:n.1998+8_1998+11del
ENST00000679516.1:c.1998+8_1998+11del	ENSP00000505187.1:n.1998+8_1998+11del
ENST00000679549.1:n.1227+8_1227+11del
ENST00000679550.1:c.1998+8_1998+11del	ENSP00000506193.1:n.1998+8_1998+11del
ENST00000679618.1:c.1998+8_1998+11del	ENSP00000506274.1:n.1998+8_1998+11del
ENST00000679630.1:n.2340+8_2340+11del
ENST00000679686.1:n.2112+8_2112+11del
ENST00000679701.1:n.2340+8_2340+11del
ENST00000679916.1:c.1998+8_1998+11del	ENSP00000506172.1:n.1998+8_1998+11del
ENST00000679939.1:c.1998+8_1998+11del	ENSP00000505704.1:n.1998+8_1998+11del
ENST00000679949.1:c.1950+8_1950+11del	ENSP00000505232.1:n.1950+8_1950+11del
ENST00000680000.1:c.1998+8_1998+11del	ENSP00000506173.1:n.1998+8_1998+11del
ENST00000680135.1:c.1936+70_1936+73del	ENSP00000506211.1:n.1936+70_1936+73del
ENST00000680149.1:c.1998+8_1998+11del	ENSP00000506497.1:n.1998+8_1998+11del
ENST00000680163.1:c.1998+8_1998+11del	ENSP00000505092.1:n.1998+8_1998+11del
ENST00000680174.1:n.2278+70_2278+73del
ENST00000680236.1:c.1998+8_1998+11del	ENSP00000506212.1:n.1998+8_1998+11del
ENST00000680287.1:c.1998+8_1998+11del	ENSP00000506547.1:n.1998+8_1998+11del
ENST00000680497.1:c.2100+8_2100+11del	ENSP00000505954.1:n.2100+8_2100+11del
ENST00000680508.1:c.1998+8_1998+11del	ENSP00000505749.1:n.1998+8_1998+11del
ENST00000680569.1:c.1998+8_1998+11del	ENSP00000505522.1:n.1998+8_1998+11del
ENST00000680630.1:n.2340+8_2340+11del
ENST00000680644.1:c.*509+8_*509+11del	ENSP00000505738.1:n.*509+8_*509+11del
ENST00000680726.1:c.1998+8_1998+11del	ENSP00000505505.1:n.1998+8_1998+11del
ENST00000680737.1:n.2340+8_2340+11del
ENST00000680759.1:c.1998+8_1998+11del	ENSP00000505848.1:n.1998+8_1998+11del
ENST00000680814.1:c.1998+8_1998+11del	ENSP00000505710.1:n.1998+8_1998+11del
ENST00000680828.1:c.1998+8_1998+11del	ENSP00000505249.1:n.1998+8_1998+11del
ENST00000680861.1:c.1998+8_1998+11del	ENSP00000505043.1:n.1998+8_1998+11del
ENST00000680927.1:c.1998+8_1998+11del	ENSP00000505473.1:n.1998+8_1998+11del
ENST00000680939.1:n.2340+8_2340+11del
ENST00000681152.1:c.1998+8_1998+11del	ENSP00000505388.1:n.1998+8_1998+11del
ENST00000681250.1:c.1471+10844_1471+10847del	ENSP00000505684.1:n.1471+10844_1471+10847del
ENST00000681256.1:c.1998+8_1998+11del	ENSP00000505446.1:n.1998+8_1998+11del
ENST00000681279.1:n.2340+8_2340+11del
ENST00000681303.1:c.1998+8_1998+11del	ENSP00000505576.1:n.1998+8_1998+11del
ENST00000681307.1:n.2340+8_2340+11del
ENST00000681461.1:n.2340+8_2340+11del
ENST00000681619.1:c.1998+8_1998+11del	ENSP00000505071.1:n.1998+8_1998+11del
ENST00000681716.1:c.1998+8_1998+11del	ENSP00000505078.1:n.1998+8_1998+11del
ENST00000681758.1:n.2340+8_2340+11del
ENST00000681768.1:c.1998+8_1998+11del	ENSP00000506311.1:n.1998+8_1998+11del
ENST00000681808.1:c.1998+8_1998+11del	ENSP00000505219.1:n.1998+8_1998+11del
ENST00000264276.10:c.1998+8_1998+11del	ENSP00000264276.6:n.1998+8_1998+11del
ENST00000482789.5:n.2138+8_2138+11del
ENST00000482891.5:n.2138+8_2138+11del
NM_020919.3:c.1998+8_1998+11del	NP_065970.2:n.1998+8_1998+11del
XM_005246709.2:c.1998+8_1998+11del	XP_005246766.1:n.1998+8_1998+11del
XM_006712654.1:c.1998+8_1998+11del	XP_006712717.1:n.1998+8_1998+11del
XM_006712655.2:c.-67+70_-67+73del	XP_006712718.1:n.-67+70_-67+73del
XM_011511530.1:c.1659+8_1659+11del	XP_011509832.1:n.1659+8_1659+11del
XM_011511531.1:c.1998+8_1998+11del	XP_011509833.1:n.1998+8_1998+11del
XR_922974.1:n.2133+8_2133+11del
XM_006712654.3:c.1998+8_1998+11del	XP_006712717.1:n.1998+8_1998+11del
XM_006712655.3:c.-67+70_-67+73del	XP_006712718.1:n.-67+70_-67+73del
XM_017004569.2:c.1998+8_1998+11del	XP_016860058.1:n.1998+8_1998+11del
XM_017004570.2:c.1998+8_1998+11del	XP_016860059.1:n.1998+8_1998+11del
XM_017004572.2:c.-488+8_-488+11del	XP_016860061.1:n.-488+8_-488+11del
XM_024453024.1:c.1659+8_1659+11del	XP_024308792.1:n.1659+8_1659+11del
XM_024453025.1:c.-67+70_-67+73del	XP_024308793.1:n.-67+70_-67+73del
XR_001738864.2:n.2133+8_2133+11del
XR_001738865.2:n.2133+8_2133+11del
XR_001738866.2:n.2133+8_2133+11del
XR_001738867.2:n.2133+8_2133+11del
XR_002959320.1:n.1189+70_1189+73del
NM_020919.4:c.1998+8_1998+11del MANE Select	NP_065970.2:n.1998+8_1998+11del